UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.129530923_129530940del | CA2579758042 | RHO | c.409_426del (p.Val137_Pro142del) | |
| 3 | g.129530927T>A | CA354498097 | RHO | c.413T>A (p.Val138Glu) | |
| 3 | g.129530927T>C | CA354498099 | RHO | c.413T>C (p.Val138Ala) | gnomAD v4 |
| 3 | g.129530927T>G | CA354498101 | RHO | c.413T>G (p.Val138Gly) | |
| 3 | g.129530928G>A | CA435643826 | RHO | c.414G>A (p.Val138=) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.129530928G>C | CA435643828 | RHO | c.414G>C (p.Val138=) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.129530928G= | CA1401209342 | RHO | c.414G= (p.Val138=) | |
| 3 | g.129530928G>T | CA435643829 | RHO | c.414G>T (p.Val138=) | |
| 3 | g.129530929G>A | CA354498103 | RHO | c.415G>A (p.Val139Met) | |
| 3 | g.129530929G>C | CA354498105 | RHO | c.415G>C (p.Val139Leu) | |
| 3 | g.129530929G>T | CA354498108 | RHO | c.415G>T (p.Val139Leu) | |
| 3 | g.129530930T>A | CA354498111 | RHO | c.416T>A (p.Val139Glu) | |
| 3 | g.129530930T>C | CA354498114 | RHO | c.416T>C (p.Val139Ala) | |
| 3 | g.129530930T>G | CA354498116 | RHO | c.416T>G (p.Val139Gly) | |
| 3 | g.129530931G>A | CA435643836 | RHO | c.417G>A (p.Val139=) | dbSNP gnomAD v4 |
| 3 | g.129530931G>C | CA435643837 | RHO | c.417G>C (p.Val139=) | gnomAD v4 |
| 3 | g.129530931G= | CA1401209347 | RHO | c.417G= (p.Val139=) | |
| 3 | g.129530931G>T | CA435643840 | RHO | c.417G>T (p.Val139=) | |
| 3 | g.129530932T>A | CA354498118 | RHO | c.418T>A (p.Cys140Ser) | |
| 3 | g.129530932T>C | CA354498123 | RHO | c.418T>C (p.Cys140Arg) | |
| 3 | g.129530932T>G | CA354498125 | RHO | c.418T>G (p.Cys140Gly) | |
| 3 | g.129530933G>A | CA354498132 | RHO | c.419G>A (p.Cys140Tyr) | |
| 3 | g.129530933G>C | CA354498130 | RHO | c.419G>C (p.Cys140Ser) | ClinVar dbSNP gnomAD v4 |
| 3 | g.129530933G= | CA1401209351 | RHO | c.419G= (p.Cys140=) | |
| 3 | g.129530933G>T | CA354498128 | RHO | c.419G>T (p.Cys140Phe) | |
| 3 | g.129530934T>A | CA354498133 | RHO | c.420T>A (p.Cys140Ter) | |
| 3 | g.129530934T>C | CA435643849 | RHO | c.420T>C (p.Cys140=) | |
| 3 | g.129530934T>G | CA354498135 | RHO | c.420T>G (p.Cys140Trp) | |
| 3 | g.129530935A>C | CA354498137 | RHO | c.421A>C (p.Lys141Gln) | |
| 3 | g.129530935A>G | CA354498140 | RHO | c.421A>G (p.Lys141Glu) | |
| 3 | g.129530935A>T | CA354498142 | RHO | c.421A>T (p.Lys141Ter) | |
| 3 | g.129530935_129530938dup | CA2667616150 | RHO | c.421_424dup (p.Pro142GlnfsTer?) | gnomAD v4 |
| 3 | g.129530936A>C | CA354498144 | RHO | c.422A>C (p.Lys141Thr) | |
| 3 | g.129530936A>G | CA354498146 | RHO | c.422A>G (p.Lys141Arg) | |
| 3 | g.129530936A>T | CA354498150 | RHO | c.422A>T (p.Lys141Met) | |
| 3 | g.129530937G>A | CA435643858 | RHO | c.423G>A (p.Lys141=) | COSMIC |
| 3 | g.129530937G>C | CA354498152 | RHO | c.423G>C (p.Lys141Asn) | |
| 3 | g.129530937G>T | CA354498159 | RHO | c.423G>T (p.Lys141Asn) | |
| 3 | g.129530938C>A | CA354498163 | RHO | c.424C>A (p.Pro142Thr) | |
| 3 | g.129530938C= | CA1401209354 | RHO | c.424C= (p.Pro142=) | |
| 3 | g.129530938C>G | CA354498165 | RHO | c.424C>G (p.Pro142Ala) | |
| 3 | g.129530938C>T | CA354498167 | RHO | c.424C>T (p.Pro142Ser) | dbSNP |
| 3 | g.129530939C>A | CA354498172 | RHO | c.425C>A (p.Pro142His) | |
| 3 | g.129530939C>G | CA354498174 | RHO | c.425C>G (p.Pro142Arg) | |
| 3 | g.129530939C>T | CA354498170 | RHO | c.425C>T (p.Pro142Leu) | gnomAD v4 |
| 3 | g.129530940C>A | CA435643868 | RHO | c.426C>A (p.Pro142=) | |
| 3 | g.129530940C>G | CA435643871 | RHO | c.426C>G (p.Pro142=) | dbSNP |
| 3 | g.129530940C>T | CA435643873 | RHO | c.426C>T (p.Pro142=) | ClinVar dbSNP |
| 3 | g.129530941A>C | CA354498180 | RHO | c.427A>C (p.Met143Leu) | |
| 3 | g.129530941A>G | CA354498176 | RHO | c.427A>G (p.Met143Val) | |
| 3 | g.129530941A>T | CA354498178 | RHO | c.427A>T (p.Met143Leu) | |
| 3 | g.129530942T>A | CA2607155 | RHO | c.428T>A (p.Met143Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.129530942T>C | CA354498185 | RHO | c.428T>C (p.Met143Thr) | dbSNP gnomAD v4 |
| 3 | g.129530942T>G | CA2607156 | RHO | c.428T>G (p.Met143Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.129530942T= | CA1401209362 | RHO | c.428T= (p.Met143=) | |
| 3 | g.129530943G>A | CA354498188 | RHO | c.429G>A (p.Met143Ile) | dbSNP gnomAD v4 |
| 3 | g.129530943G>C | CA354498189 | RHO | c.429G>C (p.Met143Ile) | |
| 3 | g.129530943G= | CA1401209365 | RHO | c.429G= (p.Met143=) | |
| 3 | g.129530943G>T | CA354498190 | RHO | c.429G>T (p.Met143Ile) | |
| 3 | g.129530944A>C | CA354498191 | RHO | c.430A>C (p.Ser144Arg) | |
| 3 | g.129530944A>G | CA354498192 | RHO | c.430A>G (p.Ser144Gly) | |
| 3 | g.129530944A>T | CA354498193 | RHO | c.430A>T (p.Ser144Cys) | |
| 3 | g.129530945G>A | CA354498195 | RHO | c.431G>A (p.Ser144Asn) | COSMIC |
| 3 | g.129530945G>C | CA354498196 | RHO | c.431G>C (p.Ser144Thr) | |
| 3 | g.129530945G>T | CA354498198 | RHO | c.431G>T (p.Ser144Ile) | |
| 3 | g.129530946C>A | CA354498202 | RHO | c.432C>A (p.Ser144Arg) | |
| 3 | g.129530946C= | CA1401209367 | RHO | c.432C= (p.Ser144=) | |
| 3 | g.129530946C>G | CA354498201 | RHO | c.432C>G (p.Ser144Arg) | |
| 3 | g.129530946C>T | CA435643895 | RHO | c.432C>T (p.Ser144=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.129530947A>C | CA354498203 | RHO | c.433A>C (p.Asn145His) | |
| 3 | g.129530947A>G | CA354498206 | RHO | c.433A>G (p.Asn145Asp) | |
| 3 | g.129530947A>T | CA354498209 | RHO | c.433A>T (p.Asn145Tyr) | |
| 3 | g.129530948A>C | CA354498211 | RHO | c.434A>C (p.Asn145Thr) | |
| 3 | g.129530948A>G | CA354498213 | RHO | c.434A>G (p.Asn145Ser) | |
| 3 | g.129530948A>T | CA354498215 | RHO | c.434A>T (p.Asn145Ile) | |
| 3 | g.129530949C>A | CA354498217 | RHO | c.435C>A (p.Asn145Lys) | |
| 3 | g.129530949C>G | CA354498219 | RHO | c.435C>G (p.Asn145Lys) | |
| 3 | g.129530949C>T | CA435643902 | RHO | c.435C>T (p.Asn145=) | |
| 3 | g.129530950T>A | CA354498221 | RHO | c.436T>A (p.Phe146Ile) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.129530950T>C | CA354498223 | RHO | c.436T>C (p.Phe146Leu) | |
| 3 | g.129530950T>G | CA354498226 | RHO | c.436T>G (p.Phe146Val) | |
| 3 | g.129530950T= | CA1401209370 | RHO | c.436T= (p.Phe146=) | |
| 3 | g.129530951T>A | CA354498229 | RHO | c.437T>A (p.Phe146Tyr) | gnomAD v4 |
| 3 | g.129530951T>C | CA354498231 | RHO | c.437T>C (p.Phe146Ser) | |
| 3 | g.129530951T>G | CA354498232 | RHO | c.437T>G (p.Phe146Cys) | |
| 3 | g.129530952C>A | CA354498234 | RHO | c.438C>A (p.Phe146Leu) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.129530952C= | CA1401209376 | RHO | c.438C= (p.Phe146=) | |
| 3 | g.129530952C>G | CA354498237 | RHO | c.438C>G (p.Phe146Leu) | |
| 3 | g.129530952C>T | CA435643911 | RHO | c.438C>T (p.Phe146=) | |
| 3 | g.129530953C>A | CA354498239 | RHO | c.439C>A (p.Arg147Ser) | gnomAD v4 |
| 3 | g.129530953C= | CA1401209381 | RHO | c.439C= (p.Arg147=) | |
| 3 | g.129530953C>G | CA354498242 | RHO | c.439C>G (p.Arg147Gly) | |
| 3 | g.129530953C>T | CA2607157 | RHO | c.439C>T (p.Arg147Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.129530954G>A | CA2607158 | RHO | c.440G>A (p.Arg147His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 3 | g.129530954G>C | CA354498251 | RHO | c.440G>C (p.Arg147Pro) | |
| 3 | g.129530954G= | CA1401209393 | RHO | c.440G= (p.Arg147=) | |
| 3 | g.129530954G>T | CA354498253 | RHO | c.440G>T (p.Arg147Leu) | |
| 3 | g.129530955C>A | CA435643918 | RHO | c.441C>A (p.Arg147=) | |
| 3 | g.129530955C= | CA1401209395 | RHO | c.441C= (p.Arg147=) | |
| 3 | g.129530955C>G | CA435643920 | RHO | c.441C>G (p.Arg147=) | |
| 3 | g.129530955C>T | CA435643922 | RHO | c.441C>T (p.Arg147=) | dbSNP |
| 3 | g.129530956T>A | CA354498260 | RHO | c.442T>A (p.Phe148Ile) | |
| 3 | g.129530956T>C | CA354498258 | RHO | c.442T>C (p.Phe148Leu) | |
| 3 | g.129530956T>G | CA354498256 | RHO | c.442T>G (p.Phe148Val) | |
| 3 | g.129530957T>A | CA354498262 | RHO | c.443T>A (p.Phe148Tyr) | |
| 3 | g.129530957T>C | CA354498263 | RHO | c.443T>C (p.Phe148Ser) | ClinVar |
| 3 | g.129530957T>G | CA354498264 | RHO | c.443T>G (p.Phe148Cys) | |
| 3 | g.129530958C>A | CA354498266 | RHO | c.444C>A (p.Phe148Leu) | gnomAD v4 |
| 3 | g.129530958C= | CA1401209397 | RHO | c.444C= (p.Phe148=) | |
| 3 | g.129530958C>G | CA354498268 | RHO | c.444C>G (p.Phe148Leu) | gnomAD v4 |
| 3 | g.129530958C>T | CA2607159 | RHO | c.444C>T (p.Phe148=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 3 | g.129530959G>A | CA2607160 | RHO | c.445G>A (p.Gly149Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 3 | g.129530959G>C | CA354498272 | RHO | c.445G>C (p.Gly149Arg) | |
| 3 | g.129530959G= | CA1401209401 | RHO | c.445G= (p.Gly149=) | |
| 3 | g.129530959G>T | CA354498271 | RHO | c.445G>T (p.Gly149Trp) | dbSNP gnomAD v4 |
| 3 | g.129530962del | CA645514953 | RHO | c.448del (p.Glu150ArgfsTer?) | COSMIC |
| 3 | g.129530960G>A | CA82648577 | RHO | c.446G>A (p.Gly149Glu) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.129530960G>C | CA354498275 | RHO | c.446G>C (p.Gly149Ala) | |
| 3 | g.129530960G= | CA1401209405 | RHO | c.446G= (p.Gly149=) | |
| 3 | g.129530960G>T | CA354498277 | RHO | c.446G>T (p.Gly149Val) | |
| 3 | g.129530961G>A | CA435643939 | RHO | c.447G>A (p.Gly149=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 3 | g.129530961G>C | CA435643942 | RHO | c.447G>C (p.Gly149=) | |
| 3 | g.129530961G= | CA1401209410 | RHO | c.447G= (p.Gly149=) | |
| 3 | g.129530961G>T | CA435643943 | RHO | c.447G>T (p.Gly149=) | |
| 3 | g.129530962G>A | CA122824 | RHO | c.448G>A (p.Glu150Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 3 | g.129530962G>C | CA2607161 | RHO | c.448G>C (p.Glu150Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.129530962G= | CA1401209417 | RHO | c.448G= (p.Glu150=) | |
| 3 | g.129530962G>T | CA354498282 | RHO | c.448G>T (p.Glu150Ter) | |
| 3 | g.129530963A>C | CA354498284 | RHO | c.449A>C (p.Glu150Ala) | |
| 3 | g.129530963A>G | CA354498286 | RHO | c.449A>G (p.Glu150Gly) | |
| 3 | g.129530963A>T | CA354498290 | RHO | c.449A>T (p.Glu150Val) | |
| 3 | g.129530964G>A | CA435643952 | RHO | c.450G>A (p.Glu150=) | |
| 3 | g.129530964G>C | CA354498294 | RHO | c.450G>C (p.Glu150Asp) | ClinVar dbSNP gnomAD v4 |
| 3 | g.129530964G= | CA1401209423 | RHO | c.450G= (p.Glu150=) | |
| 3 | g.129530964G>T | CA354498295 | RHO | c.450G>T (p.Glu150Asp) | |
| 3 | g.129530965A>C | CA354498296 | RHO | c.451A>C (p.Asn151His) | |
| 3 | g.129530965A>G | CA354498301 | RHO | c.451A>G (p.Asn151Asp) | |
| 3 | g.129530965A>T | CA354498298 | RHO | c.451A>T (p.Asn151Tyr) | |
| 3 | g.129530966A= | CA1401209428 | RHO | c.452A= (p.Asn151=) | |
| 3 | g.129530966A>C | CA354498304 | RHO | c.452A>C (p.Asn151Thr) | |
| 3 | g.129530966A>G | CA354498309 | RHO | c.452A>G (p.Asn151Ser) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.129530966A>T | CA354498306 | RHO | c.452A>T (p.Asn151Ile) | |
| 3 | g.129530967C>A | CA354498312 | RHO | c.453C>A (p.Asn151Lys) | |
| 3 | g.129530967C>G | CA354498315 | RHO | c.453C>G (p.Asn151Lys) | |
| 3 | g.129530967C>T | CA435643964 | RHO | c.453C>T (p.Asn151=) | dbSNP gnomAD v4 |
| 3 | g.129530968C>A | CA354498318 | RHO | c.454C>A (p.His152Asn) | |
| 3 | g.129530968C= | CA1401209432 | RHO | c.454C= (p.His152=) | |
| 3 | g.129530968C>G | CA354498321 | RHO | c.454C>G (p.His152Asp) | |
| 3 | g.129530968C>T | CA354498322 | RHO | c.454C>T (p.His152Tyr) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.129530969A>C | CA354498324 | RHO | c.455A>C (p.His152Pro) | |
| 3 | g.129530969A>G | CA354498330 | RHO | c.455A>G (p.His152Arg) | gnomAD v4 |
| 3 | g.129530969A>T | CA354498336 | RHO | c.455A>T (p.His152Leu) | |
| 3 | g.129530970T>A | CA354498340 | RHO | c.456T>A (p.His152Gln) | |
| 3 | g.129530970T>C | CA435643976 | RHO | c.456T>C (p.His152=) | dbSNP gnomAD v4 |
| 3 | g.129530970T>G | CA354498344 | RHO | c.456T>G (p.His152Gln) | gnomAD v4 |
| 3 | g.129530971G>A | CA354498352 | RHO | c.457G>A (p.Ala153Thr) | dbSNP gnomAD v2 |
| 3 | g.129530971G>C | CA354498357 | RHO | c.457G>C (p.Ala153Pro) | |
| 3 | g.129530971G= | CA1401209436 | RHO | c.457G= (p.Ala153=) | |
| 3 | g.129530971G>T | CA354498359 | RHO | c.457G>T (p.Ala153Ser) | |
| 3 | g.129530972C>A | CA354498362 | RHO | c.458C>A (p.Ala153Asp) | ClinVar dbSNP |
| 3 | g.129530972C= | CA1401209444 | RHO | c.458C= (p.Ala153=) | |
| 3 | g.129530972C>G | CA354498365 | RHO | c.458C>G (p.Ala153Gly) | COSMIC |
| 3 | g.129530972C>T | CA354498363 | RHO | c.458C>T (p.Ala153Val) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.129530973C>A | CA435643986 | RHO | c.459C>A (p.Ala153=) | gnomAD v4 |
| 3 | g.129530973C= | CA1401209449 | RHO | c.459C= (p.Ala153=) | |
| 3 | g.129530973C>G | CA435643988 | RHO | c.459C>G (p.Ala153=) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.129530973C>T | CA435643990 | RHO | c.459C>T (p.Ala153=) | dbSNP |
| 3 | g.129530974A>C | CA354498366 | RHO | c.460A>C (p.Ile154Leu) | |
| 3 | g.129530974A>G | CA354498368 | RHO | c.460A>G (p.Ile154Val) | gnomAD v4 |
| 3 | g.129530974A>T | CA354498370 | RHO | c.460A>T (p.Ile154Phe) | |
| 3 | g.129530975T>A | CA354498371 | RHO | c.461T>A (p.Ile154Asn) | |
| 3 | g.129530975T>C | CA354498373 | RHO | c.461T>C (p.Ile154Thr) | |
| 3 | g.129530975T>G | CA354498375 | RHO | c.461T>G (p.Ile154Ser) | |
| 3 | g.129530976C>A | CA435643999 | RHO | c.462C>A (p.Ile154=) | |
| 3 | g.129530976C>G | CA354498376 | RHO | c.462C>G (p.Ile154Met) | |
| 3 | g.129530976C>T | CA435644002 | RHO | c.462C>T (p.Ile154=) | gnomAD v4 |
| 3 | g.129530977A= | CA1401209452 | RHO | c.463A= (p.Met155=) | |
| 3 | g.129530977A>C | CA354498379 | RHO | c.463A>C (p.Met155Leu) | |
| 3 | g.129530977A>G | CA2607162 | RHO | c.463A>G (p.Met155Val) | dbSNP ExAC |
| 3 | g.129530977A>T | CA354498393 | RHO | c.463A>T (p.Met155Leu) | |
| 3 | g.129530978T>A | CA354498399 | RHO | c.464T>A (p.Met155Lys) | |
| 3 | g.129530978T>C | CA2607163 | RHO | c.464T>C (p.Met155Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.129530978T>G | CA354498395 | RHO | c.464T>G (p.Met155Arg) | |
| 3 | g.129530978T= | CA1401209457 | RHO | c.464T= (p.Met155=) | |
| 3 | g.129530979G>A | CA354498402 | RHO | c.465G>A (p.Met155Ile) | COSMIC |
| 3 | g.129530979G>C | CA354498404 | RHO | c.465G>C (p.Met155Ile) | |
| 3 | g.129530979G>T | CA354498406 | RHO | c.465G>T (p.Met155Ile) | |
| 3 | g.129530980G>A | CA354498408 | RHO | c.466G>A (p.Gly156Ser) | gnomAD v4 |
| 3 | g.129530980G>C | CA354498413 | RHO | c.466G>C (p.Gly156Arg) | gnomAD v4 |
| 3 | g.129530980G>T | CA354498415 | RHO | c.466G>T (p.Gly156Cys) | |
| 3 | g.129530981G>A | CA2607165 | RHO | c.467G>A (p.Gly156Asp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.129530981G>C | CA354498419 | RHO | c.467G>C (p.Gly156Ala) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.129530981G= | CA1401209461 | RHO | c.467G= (p.Gly156=) | |
| 3 | g.129530981G>T | CA2607164 | RHO | c.467G>T (p.Gly156Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.129530982C>A | CA435644023 | RHO | c.468C>A (p.Gly156=) | |
| 3 | g.129530982C= | CA1401209465 | RHO | c.468C= (p.Gly156=) | |
| 3 | g.129530982C>G | CA435644024 | RHO | c.468C>G (p.Gly156=) | |
| 3 | g.129530982C>T | CA2607166 | RHO | c.468C>T (p.Gly156=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.129530983G>A | CA2607167 | RHO | c.469G>A (p.Val157Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.129530983G>C | CA354498423 | RHO | c.469G>C (p.Val157Leu) | |
| 3 | g.129530983G= | CA1401209468 | RHO | c.469G= (p.Val157=) | |
| 3 | g.129530983G>T | CA354498428 | RHO | c.469G>T (p.Val157Phe) | |
| 3 | g.129530984T>A | CA354498443 | RHO | c.470T>A (p.Val157Asp) | |
| 3 | g.129530984T>C | CA354498431 | RHO | c.470T>C (p.Val157Ala) | |
| 3 | g.129530984T>G | CA354498438 | RHO | c.470T>G (p.Val157Gly) | |
| 3 | g.129530985T>A | CA435644036 | RHO | c.471T>A (p.Val157=) | |
| 3 | g.129530985T>C | CA435644038 | RHO | c.471T>C (p.Val157=) | |
| 3 | g.129530985T>G | CA435644040 | RHO | c.471T>G (p.Val157=) | dbSNP |
| 3 | g.129530986G>A | CA354498454 | RHO | c.472G>A (p.Ala158Thr) | dbSNP |
| 3 | g.129530986G>C | CA354498455 | RHO | c.472G>C (p.Ala158Pro) | |
| 3 | g.129530986G= | CA1401209471 | RHO | c.472G= (p.Ala158=) | |
| 3 | g.129530986G>T | CA354498458 | RHO | c.472G>T (p.Ala158Ser) | |
| 3 | g.129530987C>A | CA354498460 | RHO | c.473C>A (p.Ala158Asp) | |
| 3 | g.129530987C>G | CA354498462 | RHO | c.473C>G (p.Ala158Gly) | |
| 3 | g.129530987C>T | CA354498463 | RHO | c.473C>T (p.Ala158Val) | dbSNP |
| 3 | g.129530988C>A | CA435644049 | RHO | c.474C>A (p.Ala158=) | |
| 3 | g.129530988C>G | CA435644052 | RHO | c.474C>G (p.Ala158=) | |
| 3 | g.129530988C>T | CA435644054 | RHO | c.474C>T (p.Ala158=) | |
| 3 | g.129530989T>A | CA354498464 | RHO | c.475T>A (p.Phe159Ile) | |
| 3 | g.129530989T>C | CA354498465 | RHO | c.475T>C (p.Phe159Leu) | |
| 3 | g.129530989T>G | CA354498466 | RHO | c.475T>G (p.Phe159Val) | |
| 3 | g.129530990T>A | CA354498469 | RHO | c.476T>A (p.Phe159Tyr) | |
| 3 | g.129530990T>C | CA354498471 | RHO | c.476T>C (p.Phe159Ser) | |
| 3 | g.129530990T>G | CA354498472 | RHO | c.476T>G (p.Phe159Cys) | dbSNP |
| 3 | g.129530990T= | CA1401209475 | RHO | c.476T= (p.Phe159=) | |
| 3 | g.129530991C>A | CA354498474 | RHO | c.477C>A (p.Phe159Leu) | |
| 3 | g.129530991C>G | CA354498476 | RHO | c.477C>G (p.Phe159Leu) | |
| 3 | g.129530991C>T | CA435644066 | RHO | c.477C>T (p.Phe159=) | gnomAD v4 |
| 3 | g.129530991_129530992insTGGGACGAAAACGTCGAAGTCAAACCCGAAGAAGTCAGCGTACGCTTTGAAGAAGGCGTGCCGGTTGCATTGAACGGCAAAGAATACGCTGATCCTGTCGAACTCTTCCTCGA | CA2758363925 | RHO | c.477_478insTGGGACGAAAACGTCGAAGTCAAACCCGAAGAAGTCAGCGTACGCTTTGAAGAAGGCGTGCCGGTTGCATTGAACGGCAAAGAATACGCTGATCCTGTCGAACTCTTCCTCGA (p.Thr160TrpfsTer?) | |
| 3 | g.129530992A>C | CA354498479 | RHO | c.478A>C (p.Thr160Pro) | |
| 3 | g.129530992A>G | CA354498487 | RHO | c.478A>G (p.Thr160Ala) | |
| 3 | g.129530992A>T | CA354498484 | RHO | c.478A>T (p.Thr160Ser) | |
| 3 | g.129530993C>A | CA354498490 | RHO | c.479C>A (p.Thr160Asn) | |
| 3 | g.129530993C= | CA1401209480 | RHO | c.479C= (p.Thr160=) | |
| 3 | g.129530993C>G | CA354498492 | RHO | c.479C>G (p.Thr160Ser) | |
| 3 | g.129530993C>T | CA82648613 | RHO | c.479C>T (p.Thr160Ile) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.129530994C>A | CA2607168 | RHO | c.480C>A (p.Thr160=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.129530994C= | CA1401209486 | RHO | c.480C= (p.Thr160=) | |
| 3 | g.129530994C>G | CA435644077 | RHO | c.480C>G (p.Thr160=) | |
| 3 | g.129530994C>T | CA435644079 | RHO | c.480C>T (p.Thr160=) | |
| 3 | g.129530995T>A | CA354498498 | RHO | c.481T>A (p.Trp161Arg) | |
| 3 | g.129530995T>C | CA354498501 | RHO | c.481T>C (p.Trp161Arg) | ClinVar dbSNP |
| 3 | g.129530995T>G | CA354498505 | RHO | c.481T>G (p.Trp161Gly) | |
| 3 | g.129530996G>A | CA358695 | RHO | c.482G>A (p.Trp161Ter) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.129530996G>C | CA354498515 | RHO | c.482G>C (p.Trp161Ser) | |
| 3 | g.129530996G= | CA1401209491 | RHO | c.482G= (p.Trp161=) | |
| 3 | g.129530996G>T | CA354498518 | RHO | c.482G>T (p.Trp161Leu) | |
| 3 | g.129530997G>A | CA354498521 | RHO | c.483G>A (p.Trp161Ter) | |
| 3 | g.129530997G>C | CA2607169 | RHO | c.483G>C (p.Trp161Cys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.129530997G= | CA1401209495 | RHO | c.483G= (p.Trp161=) | |
| 3 | g.129530997G>T | CA354498523 | RHO | c.483G>T (p.Trp161Cys) | |
| 3 | g.129530998G>A | CA354498525 | RHO | c.484G>A (p.Val162Ile) | dbSNP |
| 3 | g.129530998G>C | CA82648646 | RHO | c.484G>C (p.Val162Leu) | dbSNP gnomAD v4 |
| 3 | g.129530998G= | CA1401209497 | RHO | c.484G= (p.Val162=) | |
| 3 | g.129530998G>T | CA354498528 | RHO | c.484G>T (p.Val162Phe) | |
| 3 | g.129530999T>A | CA354498534 | RHO | c.485T>A (p.Val162Asp) | |
| 3 | g.129530999T>C | CA354498538 | RHO | c.485T>C (p.Val162Ala) | |
| 3 | g.129530999T>G | CA354498541 | RHO | c.485T>G (p.Val162Gly) | |
| 3 | g.129531000C>A | CA435644102 | RHO | c.486C>A (p.Val162=) | |
| 3 | g.129531000C= | CA1401209505 | RHO | c.486C= (p.Val162=) | |
| 3 | g.129531000C>G | CA2607171 | RHO | c.486C>G (p.Val162=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.129531000C>T | CA2607170 | RHO | c.486C>T (p.Val162=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.129531001A= | CA1401209513 | RHO | c.487A= (p.Met163=) | |
| 3 | g.129531001A>C | CA354498549 | RHO | c.487A>C (p.Met163Leu) | |
| 3 | g.129531001A>G | CA354498550 | RHO | c.487A>G (p.Met163Val) | |
| 3 | g.129531001A>T | CA354498554 | RHO | c.487A>T (p.Met163Leu) | dbSNP |
| 3 | g.129531002T>A | CA354498555 | RHO | c.488T>A (p.Met163Lys) | |
| 3 | g.129531002T>C | CA354498556 | RHO | c.488T>C (p.Met163Thr) | |
| 3 | g.129531002T>G | CA354498558 | RHO | c.488T>G (p.Met163Arg) | |
| 3 | g.129531003G>A | CA2607172 | RHO | c.489G>A (p.Met163Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.129531003G>C | CA354498564 | RHO | c.489G>C (p.Met163Ile) | |
| 3 | g.129531003G= | CA1401209519 | RHO | c.489G= (p.Met163=) | |
| 3 | g.129531003G>T | CA354498561 | RHO | c.489G>T (p.Met163Ile) | COSMIC |
| 3 | g.129531004G>A | CA354498579 | RHO | c.490G>A (p.Ala164Thr) | |
| 3 | g.129531004G>C | CA354498569 | RHO | c.490G>C (p.Ala164Pro) | |
| 3 | g.129531004G>T | CA354498575 | RHO | c.490G>T (p.Ala164Ser) | |
| 3 | g.129531005C>A | CA256689 | RHO | c.491C>A (p.Ala164Glu) | ClinVar dbSNP |
| 3 | g.129531005C= | CA1401209527 | RHO | c.491C= (p.Ala164=) | |
| 3 | g.129531005C>G | CA354498584 | RHO | c.491C>G (p.Ala164Gly) | |
| 3 | g.129531005C>T | CA16616904 | RHO | c.491C>T (p.Ala164Val) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.129531006G>A | CA82648684 | RHO | c.492G>A (p.Ala164=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 3 | g.129531006G>C | CA435644123 | RHO | c.492G>C (p.Ala164=) | |
| 3 | g.129531006G= | CA1401209537 | RHO | c.492G= (p.Ala164=) | |
| 3 | g.129531006G>T | CA435644125 | RHO | c.492G>T (p.Ala164=) | gnomAD v4 |
| 3 | g.129531007C>A | CA354498601 | RHO | c.493C>A (p.Leu165Met) | |
| 3 | g.129531007C>G | CA354498604 | RHO | c.493C>G (p.Leu165Val) | |
| 3 | g.129531007C>T | CA435644133 | RHO | c.493C>T (p.Leu165=) | dbSNP |
| 3 | g.129531008T>A | CA354498606 | RHO | c.494T>A (p.Leu165Gln) | |
| 3 | g.129531008T>C | CA354498614 | RHO | c.494T>C (p.Leu165Pro) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.129531008T>G | CA354498612 | RHO | c.494T>G (p.Leu165Arg) | |
| 3 | g.129531008T= | CA1401209541 | RHO | c.494T= (p.Leu165=) | |
| 3 | g.129531009G>A | CA435644135 | RHO | c.495G>A (p.Leu165=) | |
| 3 | g.129531009G>C | CA435644136 | RHO | c.495G>C (p.Leu165=) | |
| 3 | g.129531009G= | CA1401209546 | RHO | c.495G= (p.Leu165=) | |
| 3 | g.129531009G>T | CA2607173 | RHO | c.495G>T (p.Leu165=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.129531010G>A | CA354498619 | RHO | c.496G>A (p.Ala166Thr) | |
| 3 | g.129531010G>C | CA354498621 | RHO | c.496G>C (p.Ala166Pro) | |
| 3 | g.129531010G>T | CA354498626 | RHO | c.496G>T (p.Ala166Ser) | |
| 3 | g.129531011C>A | CA354498629 | RHO | c.497C>A (p.Ala166Asp) | |
| 3 | g.129531011C= | CA1401209554 | RHO | c.497C= (p.Ala166=) | |
| 3 | g.129531011C>G | CA354498636 | RHO | c.497C>G (p.Ala166Gly) | |
| 3 | g.129531011C>T | CA354498630 | RHO | c.497C>T (p.Ala166Val) | ClinVar dbSNP |
| 3 | g.129531012C>A | CA435644150 | RHO | c.498C>A (p.Ala166=) | |
| 3 | g.129531012C>G | CA435644151 | RHO | c.498C>G (p.Ala166=) | |
| 3 | g.129531012C>T | CA435644154 | RHO | c.498C>T (p.Ala166=) | |
| 3 | g.129531013T>A | CA354498637 | RHO | c.499T>A (p.Cys167Ser) | |
| 3 | g.129531013T>C | CA354498638 | RHO | c.499T>C (p.Cys167Arg) | |
| 3 | g.129531013T>G | CA354498642 | RHO | c.499T>G (p.Cys167Gly) | |
| 3 | g.129531013_129531018delinsTGCGCC | CA1401209559 | RHO | c.499_504delinsTGCGCC (p.Cys167=) | |
| 3 | g.129531014G>A | CA354498646 | RHO | c.500G>A (p.Cys167Tyr) | |
| 3 | g.129531014G>C | CA354498651 | RHO | c.500G>C (p.Cys167Ser) | |
| 3 | g.129531014G>T | CA354498653 | RHO | c.500G>T (p.Cys167Phe) | |
| 3 | g.129531016_129531020del | CA898752188 | RHO | c.502_506del (p.Ala168ThrfsTer?) | dbSNP |
| 3 | g.129531015C>A | CA354498655 | RHO | c.501C>A (p.Cys167Ter) | dbSNP |
| 3 | g.129531015C= | CA1401209566 | RHO | c.501C= (p.Cys167=) | |
| 3 | g.129531015C>G | CA354498662 | RHO | c.501C>G (p.Cys167Trp) | ClinVar dbSNP |
| 3 | g.129531015C>T | CA2607174 | RHO | c.501C>T (p.Cys167=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.129531016G>A | CA2607175 | RHO | c.502G>A (p.Ala168Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.129531016G>C | CA354498673 | RHO | c.502G>C (p.Ala168Pro) | ClinVar |
| 3 | g.129531016G= | CA1401209573 | RHO | c.502G= (p.Ala168=) | |
| 3 | g.129531016G>T | CA354498675 | RHO | c.502G>T (p.Ala168Ser) | |
| 3 | g.129531017C>A | CA354498677 | RHO | c.503C>A (p.Ala168Asp) | |
| 3 | g.129531017C>G | CA354498678 | RHO | c.503C>G (p.Ala168Gly) | |
| 3 | g.129531017C>T | CA354498676 | RHO | c.503C>T (p.Ala168Val) | |
| 3 | g.129531018C>A | CA435644170 | RHO | c.504C>A (p.Ala168=) | |
| 3 | g.129531018C= | CA1401209580 | RHO | c.504C= (p.Ala168=) | |
| 3 | g.129531018C>G | CA435644172 | RHO | c.504C>G (p.Ala168=) | |
| 3 | g.129531018C>T | CA2607176 | RHO | c.504C>T (p.Ala168=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.129531019G>A | CA2607177 | RHO | c.505G>A (p.Ala169Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.129531019G>C | CA354498681 | RHO | c.505G>C (p.Ala169Pro) | ClinVar |
| 3 | g.129531019G= | CA1401209588 | RHO | c.505G= (p.Ala169=) | |
| 3 | g.129531019G>T | CA354498688 | RHO | c.505G>T (p.Ala169Ser) | |
| 3 | g.129531020C>A | CA354498698 | RHO | c.506C>A (p.Ala169Glu) | |
| 3 | g.129531020C>G | CA354498700 | RHO | c.506C>G (p.Ala169Gly) | |
| 3 | g.129531020C>T | CA354498702 | RHO | c.506C>T (p.Ala169Val) | gnomAD v4 |
| 3 | g.129531021A>C | CA435644183 | RHO | c.507A>C (p.Ala169=) | |
| 3 | g.129531021A>G | CA435644186 | RHO | c.507A>G (p.Ala169=) | |
| 3 | g.129531021A>T | CA435644189 | RHO | c.507A>T (p.Ala169=) | dbSNP |
| 3 | g.129531022C>A | CA354498715 | RHO | c.508C>A (p.Pro170Thr) | gnomAD v4 |
| 3 | g.129531022C= | CA1401209593 | RHO | c.508C= (p.Pro170=) | |
| 3 | g.129531022C>G | CA354498713 | RHO | c.508C>G (p.Pro170Ala) | dbSNP gnomAD v4 |
| 3 | g.129531022C>T | CA354498705 | RHO | c.508C>T (p.Pro170Ser) | |
| 3 | g.129531023C>A | CA354498717 | RHO | c.509C>A (p.Pro170His) | |
| 3 | g.129531023C= | CA1401209596 | RHO | c.509C= (p.Pro170=) | |
| 3 | g.129531023C>G | CA354498718 | RHO | c.509C>G (p.Pro170Arg) | ClinVar dbSNP gnomAD v4 |
| 3 | g.129531023C>T | CA354498719 | RHO | c.509C>T (p.Pro170Leu) | |
| 3 | g.129531024C>A | CA435644198 | RHO | c.510C>A (p.Pro170=) | |
| 3 | g.129531024C>G | CA435644199 | RHO | c.510C>G (p.Pro170=) | |
| 3 | g.129531024C>T | CA435644200 | RHO | c.510C>T (p.Pro170=) | |
| 3 | g.129531025C>A | CA354498720 | RHO | c.511C>A (p.Pro171Thr) | ClinVar gnomAD v4 |
| 3 | g.129531025C= | CA1401209602 | RHO | c.511C= (p.Pro171=) | |
| 3 | g.129531025C>G | CA354498722 | RHO | c.511C>G (p.Pro171Ala) | |
| 3 | g.129531025C>T | CA256690 | RHO | c.511C>T (p.Pro171Ser) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.129531025_129531026delinsGA | CA2579758052 | RHO | c.511_512delinsGA (p.Pro171Glu) | |
| 3 | g.129531026C>A | CA354498726 | RHO | c.512C>A (p.Pro171Gln) | ClinVar dbSNP |
| 3 | g.129531026C= | CA1401209615 | RHO | c.512C= (p.Pro171=) | |
| 3 | g.129531026C>G | CA354498731 | RHO | c.512C>G (p.Pro171Arg) | ClinVar dbSNP gnomAD v4 |
| 3 | g.129531026C>T | CA354498729 | RHO | c.512C>T (p.Pro171Leu) | ClinVar dbSNP gnomAD v4 |
| 3 | g.129531027A>C | CA435644208 | RHO | c.513A>C (p.Pro171=) | dbSNP COSMIC |
| 3 | g.129531027A>G | CA435644209 | RHO | c.513A>G (p.Pro171=) | |
| 3 | g.129531027A>T | CA435644212 | RHO | c.513A>T (p.Pro171=) |